A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547011



Internal ID15987734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103597390..103719086hg38UCSC Ensembl
Innerchr1:104140012..104261708hg19UCSC Ensembl
Innerchr1:103941535..104063231hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38121697
hg19121697
hg18121697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv408n54
Supporting Variantsnssv719808, nssv719809
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547011
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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